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Article

Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH).

Medical and pediatric oncology - 1 Jul 2003

zur Stadt Udo, Kabisch Hartmut, Janka Gritta, Schneider E Marion

Abstract excerpt

BACKGROUND: Recently, point mutations in the Perforin gene on chromosome 10q21 have been described to be the cause of hemophagocytic lymphohistiocytosis (HLH) in a subset of patients. Small deletions, missense, or nonsense mutations were found in both coding exons of the gene. One mutation was found apparently independently in different families of Turkish origin. This Trp374stop mutation is located within a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 12764739
DOI: 10.1002/mpo.10310

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EGF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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